Responsiveness to DDAVP in Cushing's disease is associated with USP8 mutations through enhancing AVPR1B promoter activity.

Hiroki ShichiHidenori FukuokaMaki KanzawaMasaaki YamamotoNaoki YamamotoMasaki SuzukiShin UraiRyusaku MatsumotoKeitaro KanieYasunori FujitaHironori BandoGenzo IguchiNaoko InoshitaShozo YamadaYutaka TakahashiWataru Ogawa

Published in: Pituitary (2022)

We found that the responsiveness of ACTH to DDAVP in CD was greater in tumors with USP8 mutations. The present data suggest that USP8 mutations upregulate the AVPR1B promoter activity. Additionally, we showed that the DDAVP test can predict the presence of USP8 mutations.

Keyphrases

dna methylation
gene expression
transcription factor
electronic health record
machine learning